Kelly Brendan P, Russell Mark W, Hennessy James R, Ensing Gregory J
Division of Pediatric Cardiology, University of Michigan, Ann Arbor, USA.
Pediatr Cardiol. 2009 Nov;30(8):1176-9. doi: 10.1007/s00246-009-9521-3.
Hypertrophic cardiomyopathy (HCM) is a heterogeneous disorder characterized by thickening of the heart and an increased incidence of sudden death. This study is aimed to determine the genetic cause of severe cardiac hypertrophy in an infant. An infant was assigned a diagnosis of ventricular preexcitation and severe biventricular HCM requiring septal myectomy. Genetic testing showed a novel heterozygous E506Q mutation of the adenosine monophosphate (AMP)-activated protein kinase (PRKAG2) gene. Endomyocardial biopsy samples did not demonstrate significant glycogen accumulation. Hypertrophic cardiomyopathy due to PRKAG2 mutations may have a degree of cardiac hypertrophy exceeding that expected from observed amounts of glycogen deposition.
肥厚型心肌病（HCM）是一种异质性疾病，其特征为心脏增厚以及猝死发生率增加。本研究旨在确定一名婴儿严重心脏肥大的遗传原因。一名婴儿被诊断为心室预激和严重双心室HCM，需要进行室间隔心肌切除术。基因检测显示腺苷单磷酸（AMP）激活的蛋白激酶（PRKAG2）基因存在一种新的杂合E506Q突变。心内膜心肌活检样本未显示明显的糖原积累。由PRKAG2突变引起的肥厚型心肌病可能具有一定程度的心脏肥大，超过了根据观察到的糖原沉积量所预期的程度。
